{
    "disease_id": "DOID:0070507",
    "recommended_name": {
        "id": "DOID:0070507",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070507",
        "name": "mitochondrial complex IV deficiency nuclear type 22",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070507",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070507",
            "name": "MC4DN22",
            "description": ""
        },
        {
            "id": "MONDO:0859160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859160",
            "name": "mitochondrial complex IV deficiency, nuclear type 22",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX16 gene."
        },
        {
            "id": "MIM:619355",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619355",
            "name": "Mitochondrial complex IV deficiency, nuclear type 22",
            "description": "Mitochondrial complex IV deficiency, nuclear type 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070507"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070507",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070507",
            "categories": []
        },
        {
            "id": "MONDO:0859160",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859160",
            "categories": []
        },
        {
            "id": "MIM:619355",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619355",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CR63-1",
            "uniprot_ac": "Q9CR63",
            "uniprot_id": "COX16_MOUSE",
            "refseq_ac": "NP_001296737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX16 homolog, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX16 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox16",
                    "type": "recommended"
                },
                {
                    "name": "1810020G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "1810055I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cox16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR63-1",
            "evidence": [
                {
                    "id": "0070507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P0S2-1",
            "uniprot_ac": "Q9P0S2",
            "uniprot_id": "COX16_HUMAN",
            "refseq_ac": "NP_057552",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX16, cytochrome c oxidase assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX16 homolog, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX16 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "hCOX16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX16",
                    "type": "recommended"
                },
                {
                    "name": "C14orf112",
                    "type": "synonym"
                },
                {
                    "name": "COX16",
                    "type": "synonym"
                },
                {
                    "name": "HSPC203",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN22",
                    "type": "synonym"
                },
                {
                    "name": "PTD019",
                    "type": "synonym"
                },
                {
                    "name": "hCOX16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P0S2-1",
            "evidence": [
                {
                    "id": "619355",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619355"
                },
                {
                    "id": "0070507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47081-1",
            "uniprot_ac": "P47081",
            "uniprot_id": "COX16_YEAST",
            "refseq_ac": "NP_012531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly protein COX16, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cox16p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX16",
                    "type": "recommended"
                },
                {
                    "name": "COX16",
                    "type": "synonym"
                },
                {
                    "name": "J1403",
                    "type": "synonym"
                },
                {
                    "name": "YJR83.2",
                    "type": "synonym"
                }
            ],
            "record_id": "P47081-1",
            "evidence": [
                {
                    "id": "0070507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8B0-1",
            "uniprot_ac": "D3Z8B0",
            "uniprot_id": "D3Z8B0_RAT",
            "refseq_ac": "NP_001156625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX16 cytochrome c oxidase assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "COX16, cytochrome c oxidase assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox16",
                    "type": "recommended"
                },
                {
                    "name": "Cox16",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8B0-1",
            "evidence": [
                {
                    "id": "0070507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070507"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF98-1",
            "uniprot_ac": "Q9VF98",
            "uniprot_id": "Q9VF98_DROME",
            "refseq_ac": "NP_001262589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG14865-PE",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo43-PE",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) neo43, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(3)neo43",
                    "type": "recommended"
                },
                {
                    "name": "CG14865",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14865",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14865",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF98-1",
            "evidence": [
                {
                    "id": "0070507",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070507"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070507"
}